Marti, 2008: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
48
73
n.a.
Cerebellar atrophy
Gait ataxia
Nystagmus (interictal)
Dysarthria
Nystagmus
Ataxia
Ataxia, limb
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n.a.
Yes
n.a.
n.a.
30
39
n.a.
Ataxia (ictal)
Headache
-Gait ataxia (interictal)
Cerebellar atrophy
Vertigo
Muscle weakness
Vertigo (ictal)
Gait ataxia
-Muscle weakness (ictal)
Migraine
Nystagmus (interictal)
Nystagmus
-Limb ataxia (interictal)
Dysarthria
-Gait ataxia (ictal)
Ataxia
Ataxia, limb
Hemiplegia
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n.a.